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Original research
Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1

Authors

  1. Correspondence to Dr Sadaf Naz, School of Biological Sciences, University of the Punjab, Lahore 54590, Pakistan; naz.sbs{at}pu.edu.pk; Dr Outi Mäkitie; outi.makitie{at}helsinki.fi
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Citation

Ain NU, Baroncelli M, Costantini A, et al
Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1

Publication history

  • Received February 20, 2020
  • Revised May 18, 2020
  • Accepted May 21, 2020
  • First published June 26, 2020.

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